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Journal Articles

Monogenic disorders of the IRF transcription factors

Mattison P. Stojcic, Pariya Yousefi, Catherine M. Biggs, Stuart E. Turvey
Journal: Journal of Experimental Medicine
Series: Genes and Immunity Focus
J Exp Med (2025) 223 (1): e20250939.
https://doi.org/10.1084/jem.20250939
Published: 21 November 2025
View article titled, Monogenic disorders of the IRF transcription factors
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Journal Articles

Genetically heterozygous - transcriptionally homozygous IRF7 deficiency underlies herpesvirus CNS infections in humans

Marvin Werner, Jonas Holst Wolff, Justin Taft, Thomas Zillinger, Daniëla M. Hinke, Toke S. Barfod, Kerstin De Keukeleere, Franziska Winzig, Bettina Bundgaard, Ryo Narita, Thomas Wisbech Skov, Julie A. Jensen, Sofie E. Jørgensen, Charlotte S. Jørgensen, Morten K. Skouboe, Ria Lassaunière, Joke H. de Boer, Martin R. Jakobsen, Jacob G. Mikkelsen, Dusan Bogunovic, Søren R. Paludan, Renée M. van der Sluis, Trine H. Mogensen
Journal: Journal of Experimental Medicine
J Exp Med (2025) 223 (1): e20250492.
https://doi.org/10.1084/jem.20250492
Published: 29 October 2025
View article titled, Genetically heterozygous - transcriptionally homozygous IRF7 deficiency underlies herpesvirus CNS infections in humans
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Includes: Supplementary data
Journal Articles

Pathogenesis of polyglutamine diseases: Piecing together a complex molecular puzzle

Esmeralda Villavicencio Gonzalez, Huda Y. Zoghbi
Journal: Journal of Experimental Medicine
J Exp Med (2025) 223 (1): e20241336.
https://doi.org/10.1084/jem.20241336
Published: 23 October 2025
View article titled, Pathogenesis of polyglutamine diseases: Piecing together a complex molecular puzzle
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Journal Articles

Identification of lymphatic vessels in skull periosteum but not bone marrow reveals skull channel heterogeneity

Qing Chang, Li Ma, Ziying Lin, Yang Shu, Pao-Fen Ko, Matthew Blumberg, Jian-Fu Chen
Journal: Journal of Experimental Medicine
J Exp Med (2025) 222 (12): e20241971.
https://doi.org/10.1084/jem.20241971
Published: 19 September 2025
View article titled, Identification of lymphatic vessels in skull periosteum but not bone marrow reveals skull channel heterogeneity
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Journal Articles

A high-throughput zebrafish screen identifies novel candidate treatments for kaposiform lymphangiomatosis (KLA)

Ivan Bassi, Amani Jabali, Lotan Levin, Giuseppina Lambiase, Noga Moshe, Naama Farag, Yaara Tevet, Gal Perlmoter, Shany Egozi, Gil S. Leichner, Polina Geva, Aviv Barzilai, Camila Avivi, Jonathan Long, Jason J. Otterstrom, Yael Paran, Haim Barr, Karina Yaniv, Shoshana Greenberger
Journal: Journal of Experimental Medicine
J Exp Med (2025) 222 (11): e20240513.
https://doi.org/10.1084/jem.20240513
Published: 21 August 2025
View article titled, A high-throughput zebrafish screen identifies novel candidate treatments for kaposiform lymphangiomatosis (KLA)
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Includes: Supplementary data
Journal Articles

ASXL1 deficiency causes epigenetic dysfunction, combined immunodeficiency, and EBV-associated lymphoma

Maggie P. Fu, Mehul Sharma, Pariya Yousefi, Sarah M. Merrill, Ryan Tan, Simran Samra, Audi Setiadi, Liam Golding, Bhavi P. Modi, Kate L. Del Bel, Rebecca J. Deyell, Jacob Rozmus, Wingfield Rehmus, Kyla J. Hildebrand, Elliot James, Géraldine Blanchard-Rohner, Susan Lin, Kevin E. Shopsowitz, Jefferson Terry, Anna F. Lee, Britt I. Drögemöller, Allison Matthews, Maja Tarailo-Graovac, Laura Sauvé, Hana Mitchell, Julie S. Prendiville, Julia L. MacIsaac, Kristy Dever, David T.S. Lin, Mandy Meijer, Colin J.D. Ross, Simon R.M. Dobson, Suzanne M. Vercauteren, Wyeth W. Wasserman, Clara D.M. van Karnebeek, Margaret L. McKinnon, Michael S. Kobor, Stuart E. Turvey, Catherine M. Biggs
Journal: Journal of Experimental Medicine
J Exp Med (2025) 222 (10): e20240945.
https://doi.org/10.1084/jem.20240945
Published: 31 July 2025
View article titled, ASXL1 deficiency causes epigenetic dysfunction, combined immunodeficiency, and EBV-associated lymphoma
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Includes: Supplementary data
Journal Articles

Monoallelic mutations in MMD2 cause autosomal dominant aggressive periodontitis

Tomoyuki Iwata, Yoko Mizoguchi, Tetsuya Yoshimoto, Miyuki Tsumura, Fumiaki Sakura, Jeffrey R. Johnson, Shinji Matsuda, Kazuhisa Ouhara, Yukiko Nagatani, Takaki Asano, Hidenori Ohnishi, Zenichiro Kato, Keichiro Mihara, Hirokazu Kanegane, Tomoya Ueda, Shinya Sasaki, Yuri Taniguchi, Yurika Ninomiya, Yoshinori Ohno, Kyoko Suzuki-Takedachi, Yusuke Sotomaru, Tetsushi Sakuma, Takashi Yamamoto, Yukiko Matsuda, Kodai Kume, Terukazu Sanui, Fusanori Nishimura, Mikihito Kajiya, Yasuyoshi Ueki, Hidemi Kurihara, Hiroyuki Morino, Satoshi Okada, Hideshi Kawakami, Noriyoshi Mizuno
Journal: Journal of Experimental Medicine
J Exp Med (2025) 222 (9): e20231911.
https://doi.org/10.1084/jem.20231911
Published: 15 July 2025
View article titled, Monoallelic mutations in MMD2 cause autosomal dominant aggressive periodontitis
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Includes: Supplementary data
Journal Articles

The STING pathway drives noninflammatory neurodegeneration in NGLY1 deficiency

In Special Collection:
Cytokines Collection 2025 , Neuroscience Collection 2025 , Pattern Recognition Receptors and Beyond
Kun Yang, Gustavo Torres-Ramirez, Nicole Dobbs, Jie Han, Makoto Asahina, Reiko Fujinawa, Kun Song, Yun Liu, Weichun Lin, Angelica Oviedo, Chuo Chen, Lei Zhu, William F. Mueller, Kevin Lee, Tadashi Suzuki, Nan Yan
Journal: Journal of Experimental Medicine
J Exp Med (2025) 222 (10): e20242296.
https://doi.org/10.1084/jem.20242296
Published: 11 July 2025
View article titled, The STING pathway drives noninflammatory neurodegeneration in NGLY1 deficiency
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Includes: Supplementary data
Journal Articles

A multimorphic variant in ThPOK causes an inborn error of immunity with T cell defects and fibrosis

Maryam Vaseghi-Shanjani, Mehul Sharma, Pariya Yousefi, Simran Samra, Kaitlin U. Laverty, Arttu Jolma, Rozita Razavi, Ally H.W. Yang, Mihai Albu, Liam Golding, Anna F. Lee, Ryan Tan, Phillip A. Richmond, Marita Bosticardo, Jonathan H. Rayment, Connie L. Yang, Kyla J. Hildebrand, Rae Brager, Michelle K. Demos, Yu-Lung Lau, Luigi D. Notarangelo, Timothy R. Hughes, Catherine M. Biggs, Stuart E. Turvey
Journal: Journal of Experimental Medicine
J Exp Med (2025) 222 (8): e20241174.
https://doi.org/10.1084/jem.20241174
Published: 20 May 2025
View article titled, A multimorphic variant in ThPOK causes an inborn error of immunity with T cell defects and fibrosis
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Includes: Supplementary data
Journal Articles

Human immunity to fungal infections

In Special Collection:
JEM Clinical Immunology Collection 2025
Donald C. Vinh
Journal: Journal of Experimental Medicine
J Exp Med (2025) 222 (6): e20241215.
https://doi.org/10.1084/jem.20241215
Published: 15 April 2025
View article titled, Human immunity to fungal infections
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Journal Articles

Identifying genetic errors of immunity due to mosaicism

In Special Collection:
JEM Clinical Immunology Collection 2025 , Genes and Immunity
Elizabeth G. Schmitz, Malachi Griffith, Obi L. Griffith, Megan A. Cooper
Journal: Journal of Experimental Medicine
Series: Genes and Immunity Focus
J Exp Med (2025) 222 (5): e20241045.
https://doi.org/10.1084/jem.20241045
Published: 15 April 2025
View article titled, Identifying genetic errors of immunity due to mosaicism
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Journal Articles

Primary disorders of polyubiquitination: Dual roles in autoinflammation and immunodeficiency

András N. Spaan, Bertrand Boisson, Seth L. Masters
Journal: Journal of Experimental Medicine
Series: Genes and Immunity Focus
J Exp Med (2025) 222 (5): e20241047.
https://doi.org/10.1084/jem.20241047
Published: 15 April 2025
View article titled, Primary disorders of polyubiquitination: Dual roles in autoinflammation and immunodeficiency
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Journal Articles

Suppression of BRCA1 facilitates kidney regeneration

Kaira A. Church, Xunian Zhou, Raghu Kalluri
Journal: Journal of Experimental Medicine
J Exp Med (2025) 222 (6): e20241814.
https://doi.org/10.1084/jem.20241814
Published: 28 March 2025
View article titled, Suppression of BRCA1 facilitates kidney regeneration
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Journal Articles

Dominant interfering CARD11 variants disrupt JNK signaling to promote GATA3 expression in T cells

In Special Collection:
Genes and Immunity
Bradly M. Bauman, Jeffrey R. Stinson, Melissa A. Kallarakal, Lei Haley Huang, Andrew M. Frank, Gauthaman Sukumar, Nermina Saucier, Clifton L. Dalgard, Alice Y. Chan, Joshua D. Milner, Megan A. Cooper, Andrew L. Snow
Journal: Journal of Experimental Medicine
J Exp Med (2025) 222 (6): e20240272.
https://doi.org/10.1084/jem.20240272
Published: 20 March 2025
View article titled, Dominant interfering CARD11 variants disrupt JNK signaling to promote GATA3 expression in T cells
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Includes: Supplementary data
Journal Articles

Replication stress, microcephalic primordial dwarfism, and compromised immunity in ATRIP deficient patients

In Special Collection:
Genes and Immunity
Evi Duthoo, Elien Beyls, Lynn Backers, Thorkell Gudjónsson, Peiquan Huang, Leander Jonckheere, Sebastian Riemann, Bram Parton, Likun Du, Veronique Debacker, Marieke De Bruyne, Levi Hoste, Ans Baeyens, Anne Vral, Eva Van Braeckel, Jens Staal, Geert Mortier, Tessa Kerre, Qiang Pan-Hammarström, Claus S. Sørensen, Filomeen Haerynck, Kathleen B.M. Claes, Simon J. Tavernier
Journal: Journal of Experimental Medicine
J Exp Med (2025) 222 (5): e20241432.
https://doi.org/10.1084/jem.20241432
Published: 03 March 2025
View article titled, Replication stress, microcephalic primordial dwarfism, and compromised immunity in ATRIP deficient patients
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Includes: Supplementary data
Journal Articles

The common HAQ STING allele prevents clinical penetrance of COPA syndrome

In Special Collection:
Genes and Immunity
Noa Simchoni, Shogo Koide, Maryel Likhite, Yoshihiko Kuchitsu, Senkottuvelan Kadirvel, Christopher S. Law, Brett M. Elicker, Santosh Kurra, Margaret Mei-Kay Wong, Bo Yuan, Alice Grossi, Ronald M. Laxer, Stefano Volpi, Dilan Dissanayake, Tomohiko Taguchi, David B. Beck, Tiphanie P. Vogel, Anthony K. Shum
Journal: Journal of Experimental Medicine
J Exp Med (2025) 222 (4): e20242179.
https://doi.org/10.1084/jem.20242179
Published: 27 February 2025
View article titled, The common HAQ STING allele prevents clinical penetrance of COPA syndrome
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Includes: Supplementary data
Journal Articles

RBM10 loss promotes metastases by aberrant splicing of cytoskeletal and extracellular matrix mRNAs

Gnana P. Krishnamoorthy, Anthony R. Glover, Brian R. Untch, Nickole Sigcha-Coello, Bin Xu, Dina Vukel, Yi Liu, Vera Tiedje, Jose Mario Bello Pineda, Katherine Berman, Prasanna P. Tamarapu, Adrian Acuña-Ruiz, Mahesh Saqcena, Elisa de Stanchina, Laura Boucai, Ronald A. Ghossein, Jeffrey A. Knauf, Omar Abdel-Wahab, Robert K. Bradley, James A. Fagin
Journal: Journal of Experimental Medicine
J Exp Med (2025) 222 (5): e20241029.
https://doi.org/10.1084/jem.20241029
Published: 24 February 2025
View article titled, RBM10 loss promotes metastases by aberrant splicing of cytoskeletal and extracellular matrix mRNAs
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Includes: Supplementary data
Journal Articles

A “second hit” impacts disease severity in a dominantly inherited genetic skin disorder

Pierre A. Coulombe
Journal: Journal of Experimental Medicine
J Exp Med (2025) 222 (5): e20242377.
https://doi.org/10.1084/jem.20242377
Published: 20 February 2025
View article titled, A “second hit” impacts disease severity in a dominantly inherited genetic skin disorder
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Journal Articles

HMCN1 variants aggravate epidermolysis bullosa simplex phenotype

Shir Bergson, Ofer Sarig, Moshe Giladi, Janan Mohamad, Mariana Mogezel-Salem, Karina Smorodinsky-Atias, Ofir Sade, Bar Manori, Sari Assaf, Kiril Malovitski, Yarden Feller, Mor Pavlovsky, Stefan Hainzl, Thomas Kocher, Julia I. Hummel, Noy Eretz Kdosha, Lubna Gazi Khair, Roland Zauner, Josefina Pinon Hofbauer, Ruby Shalom-Feuerstein, Verena Wally, Ulrich Koller, Liat Samuelov, Yoni Haitin, Uri Ashery, Rotem Rubinstein, Eli Sprecher
Journal: Journal of Experimental Medicine
J Exp Med (2025) 222 (5): e20240827.
https://doi.org/10.1084/jem.20240827
Published: 20 February 2025
View article titled, HMCN1 variants aggravate epidermolysis bullosa simplex phenotype
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Includes: Supplementary data
Journal Articles

The MLL3/GRHL2 complex regulates malignant transformation and anti-tumor immunity in squamous cancer

In Special Collection:
JEM Cancer Immunotherapy 2025
Chehyun Nam, Guowei Huang, Yueyuan Zheng, Hua Zhao, Yuhao Pan, Boyan Hu, Talia Wenger, Hieu T. Van, Li-Yan Xu, En-Min Li, H. Phillip Koeffler, Kai Ge, Yali Dou, Uttam K. Sinha, Young Min Park, De-Chen Lin
Journal: Journal of Experimental Medicine
J Exp Med (2025) 222 (4): e20240758.
https://doi.org/10.1084/jem.20240758
Published: 18 February 2025
View article titled, The MLL3/GRHL2 complex regulates malignant transformation and anti-tumor immunity in squamous cancer
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Includes: Supplementary data